Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study
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DOI: 10.1186/s13023-019-1200-8
Abstract: BackgroundBarth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in… read more here.
Keywords: interview; experience barth; understanding life; life experience ... See more keywords